Hereditary hypertrophic neuropathy
Progressive third and fifth cranial neuropathies. Known history of multiple sclerosis.
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There is abnormal thickening and enhancement of multiple cranial nerves, including the bilateral 3rd, 5th and proximal left 12th nerves. Prior studies show slow progression of this process as far back as 2007.
Numerous T2/FLAIR hyperintense lesions in the supratentorial white matter are consistent with the patient's known underlying multiple sclerosis.
This is a case of progressive, diffuse cranial nerve thickening in a patient with known multiple sclerosis. Differential considerations for these findings include processes such as chronic inflammatory demyelinating polyneuropathy (CIDP) or hereditary hypertrophic neuropathy (HHH). Given the patient's history of multiple sclerosis, hereditary hypertrophic neuropathy was felt to be more likely given the association of processes like HHH or Charcot-Marie-Tooth in patients with demyelinating diseases. However, CIDP remains a possibility. In both entities, patients can experience cranial nerve palsies or pain as did the patient in this case.
- Quan D, Pelak V, Tanabe J, Durairaj V, Kleinschmidt-Demasters BK. Spinal and cranial hypertrophic neuropathy in multiple sclerosis. Muscle Nerve. 2005 Jun;31(6):772-9.
- Waddy HM, et al. Focal cranial nerve involvement in chronic inflammatory demyelinating polyneuropathy: clinical and MRI evidence of peripheral and central lesions. J Neurol. 1989